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Page 1
The phenotype of SDHB germline mutation carriers: a nationwide study.
Niemeijer ND, Rijken JA, Eijkelenkamp K, van der Horst-Schrivers ANA, Kerstens MN, Tops CMJ, van Berkel A, Timmers HJLM, Kunst HPM, Leemans CR, Bisschop PH, Dreijerink KMA, van Dooren MF, Bayley JP, Pereira AM, Jansen JC, Hes FJ, Hensen EF, Corssmit EPM. Niemeijer ND, et al. Among authors: van der horst schrivers ana, van dooren mf, van berkel a. Eur J Endocrinol. 2017 Aug;177(2):115-125. doi: 10.1530/EJE-17-0074. Epub 2017 May 10. Eur J Endocrinol. 2017. PMID: 28490599
The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.
Rijken JA, Niemeijer ND, Jonker MA, Eijkelenkamp K, Jansen JC, van Berkel A, Timmers HJLM, Kunst HPM, Bisschop PHLT, Kerstens MN, Dreijerink KMA, van Dooren MF, van der Horst-Schrivers ANA, Hes FJ, Leemans CR, Corssmit EPM, Hensen EF. Rijken JA, et al. Among authors: van der horst schrivers ana, van dooren mf, van berkel a. Clin Genet. 2018 Jan;93(1):60-66. doi: 10.1111/cge.13055. Epub 2017 Sep 6. Clin Genet. 2018. PMID: 28503760
Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.
Rijken JA, Niemeijer ND, Leemans CR, Eijkelenkamp K, van der Horst-Schrivers ANA, van Berkel A, Timmers HJLM, Kunst HPM, Bisschop PHLT, van Dooren MF, Hes FJ, Jansen JC, Corssmit EPM, Hensen EF. Rijken JA, et al. Among authors: van der horst schrivers ana, van dooren mf, van berkel a. BJS Open. 2018 Feb 6;2(2):62-69. doi: 10.1002/bjs5.39. eCollection 2018 Apr. BJS Open. 2018. PMID: 29951630 Free PMC article.
Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.
Papathomas TG, Gaal J, Corssmit EP, Oudijk L, Korpershoek E, Heimdal K, Bayley JP, Morreau H, van Dooren M, Papaspyrou K, Schreiner T, Hansen T, Andresen PA, Restuccia DF, van Kessel I, van Leenders GJ, Kros JM, Looijenga LH, Hofland LJ, Mann W, van Nederveen FH, Mete O, Asa SL, de Krijger RR, Dinjens WN. Papathomas TG, et al. Eur J Endocrinol. 2013 Nov 22;170(1):1-12. doi: 10.1530/EJE-13-0623. Print 2014 Jan. Eur J Endocrinol. 2013. PMID: 24096523
Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.
Rijken JA, van Hulsteijn LT, Dekkers OM, Niemeijer ND, Leemans CR, Eijkelenkamp K, van der Horst-Schrivers ANA, Kerstens MN, van Berkel A, Timmers HJLM, Kunst HPM, Bisschop PHLT, Dreijerink KMA, van Dooren MF, Hes FJ, Jansen JC, Corssmit EPM, Hensen EF. Rijken JA, et al. Among authors: van der horst schrivers ana, van dooren mf, van hulsteijn lt, van berkel a. Cancers (Basel). 2019 Jan 17;11(1):103. doi: 10.3390/cancers11010103. Cancers (Basel). 2019. PMID: 30658386 Free PMC article.
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.
Eijkelenkamp K, Olderode-Berends MJW, van der Luijt RB, Robledo M, van Dooren M, Feelders RA, de Vries J, Kerstens MN, Links TP, van der Horst-Schrivers ANA. Eijkelenkamp K, et al. Clin Genet. 2018 May;93(5):1049-1056. doi: 10.1111/cge.13202. Epub 2018 Mar 23. Clin Genet. 2018. PMID: 29282712
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.
Korpershoek E, Favier J, Gaal J, Burnichon N, van Gessel B, Oudijk L, Badoual C, Gadessaud N, Venisse A, Bayley JP, van Dooren MF, de Herder WW, Tissier F, Plouin PF, van Nederveen FH, Dinjens WN, Gimenez-Roqueplo AP, de Krijger RR. Korpershoek E, et al. Among authors: van nederveen fh, van gessel b, van dooren mf. J Clin Endocrinol Metab. 2011 Sep;96(9):E1472-6. doi: 10.1210/jc.2011-1043. Epub 2011 Jul 13. J Clin Endocrinol Metab. 2011. PMID: 21752896
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG. Zazo Seco C, et al. Among authors: van den boogaard mh, van dooren mf, van de kamp jm. Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000701 Free PMC article.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC; DOOFNL Consortium; Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H. Wesdorp M, et al. Among authors: van gaalen j, van dooren mf, van rossum mm. Hum Genet. 2018 May;137(5):389-400. doi: 10.1007/s00439-018-1880-5. Epub 2018 May 12. Hum Genet. 2018. PMID: 29754270 Free PMC article.
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
de Bruijn SE, Smits JJ, Liu C, Lanting CP, Beynon AJ, Blankevoort J, Oostrik J, Koole W, de Vrieze E, Cremers CWRJ, Cremers FPM, Roosing S, Yntema HG, Kunst HPM, Zhao B, Pennings RJE, Kremer H; DOOFNL Consortium. de Bruijn SE, et al. J Med Genet. 2020 Jul 6:jmedgenet-2020-106863. doi: 10.1136/jmedgenet-2020-106863. Online ahead of print. J Med Genet. 2020. PMID: 32631815 Free PMC article.
65 results